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Q15031

- SYLM_HUMAN

UniProt

Q15031 - SYLM_HUMAN

Protein

Probable leucine--tRNA ligase, mitochondrial

Gene

LARS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (01 Nov 1997)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    ATP + L-leucine + tRNA(Leu) = AMP + diphosphate + L-leucyl-tRNA(Leu).

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei642 – 6421ATPBy similarity

    GO - Molecular functioni

    1. aminoacyl-tRNA editing activity Source: InterPro
    2. ATP binding Source: UniProtKB-KW
    3. leucine-tRNA ligase activity Source: UniProtKB-EC

    GO - Biological processi

    1. gene expression Source: Reactome
    2. leucyl-tRNA aminoacylation Source: InterPro
    3. tRNA aminoacylation for protein translation Source: Reactome

    Keywords - Molecular functioni

    Aminoacyl-tRNA synthetase, Ligase

    Keywords - Biological processi

    Protein biosynthesis

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDAi6.1.1.4. 2681.
    ReactomeiREACT_15302. Mitochondrial tRNA aminoacylation.
    SABIO-RKQ15031.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable leucine--tRNA ligase, mitochondrial (EC:6.1.1.4)
    Alternative name(s):
    Leucyl-tRNA synthetase
    Short name:
    LeuRS
    Gene namesi
    Name:LARS2
    Synonyms:KIAA0028
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:17095. LARS2.

    Subcellular locationi

    Mitochondrion matrix By similarity

    GO - Cellular componenti

    1. mitochondrial matrix Source: Reactome

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Perrault syndrome 4 (PRLTS4) [MIM:615300]: A sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti522 – 5221T → N in PRLTS4; reduced activity. 1 Publication
    VAR_070094
    Natural varianti629 – 6291T → M in PRLTS4; found in a compound heterozygote also carrying a null mutation; the mutant is functional in a yeast complementaion assay but might be insufficient as a heterozygote with a fully non-functional allele. 1 Publication
    VAR_070095

    Keywords - Diseasei

    Deafness, Disease mutation

    Organism-specific databases

    MIMi615300. phenotype.
    Orphaneti2855. Perrault syndrome.
    PharmGKBiPA134982982.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini? – 903Probable leucine--tRNA ligase, mitochondrialPRO_0000035806
    Transit peptidei1 – ?MitochondrionSequence Analysis

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei68 – 681N6-acetyllysineBy similarity
    Modified residuei236 – 2361N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ15031.
    PaxDbiQ15031.
    PeptideAtlasiQ15031.
    PRIDEiQ15031.

    PTM databases

    PhosphoSiteiQ15031.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed, but highest expression in tissues with high metabolic rates, such as skeletal muscle, heart, and kidney.1 Publication

    Gene expression databases

    ArrayExpressiQ15031.
    BgeeiQ15031.
    CleanExiHS_LARS2.
    GenevestigatoriQ15031.

    Organism-specific databases

    HPAiHPA035951.
    HPA045450.

    Interactioni

    Protein-protein interaction databases

    BioGridi116968. 6 interactions.
    STRINGi9606.ENSP00000265537.

    Structurei

    3D structure databases

    ProteinModelPortaliQ15031.
    SMRiQ15031. Positions 53-901.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi92 – 10211"HIGH" regionAdd
    BLAST
    Motifi639 – 6435"KMSKS" region

    Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0495.
    HOGENOMiHOG000200747.
    HOVERGENiHBG017877.
    InParanoidiQ15031.
    KOiK01869.
    OMAiHELEVYT.
    OrthoDBiEOG754HNN.
    PhylomeDBiQ15031.
    TreeFamiTF105662.

    Family and domain databases

    Gene3Di1.10.730.10. 1 hit.
    3.40.50.620. 3 hits.
    3.90.740.10. 1 hit.
    InterProiIPR001412. aa-tRNA-synth_I_CS.
    IPR002300. aa-tRNA-synth_Ia.
    IPR002302. Leu-tRNA-ligase.
    IPR014729. Rossmann-like_a/b/a_fold.
    IPR009080. tRNAsynth_1a_anticodon-bd.
    IPR013155. V/L/I-tRNA-synth_anticodon-bd.
    IPR009008. Val/Leu/Ile-tRNA-synth_edit.
    [Graphical view]
    PANTHERiPTHR11946:SF7. PTHR11946:SF7. 1 hit.
    PfamiPF08264. Anticodon_1. 1 hit.
    PF00133. tRNA-synt_1. 3 hits.
    [Graphical view]
    PRINTSiPR00985. TRNASYNTHLEU.
    SUPFAMiSSF47323. SSF47323. 1 hit.
    SSF50677. SSF50677. 1 hit.
    TIGRFAMsiTIGR00396. leuS_bact. 1 hit.
    PROSITEiPS00178. AA_TRNA_LIGASE_I. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q15031-1 [UniParc]FASTAAdd to Basket

    « Hide

    MASVWQRLGF YASLLKRQLN GGPDVIKWER RVIPGCTRSI YSATGKWTKE    50
    YTLQTRKDVE KWWHQRIKEQ ASKISEADKS KPKFYVLSMF PYPSGKLHMG 100
    HVRVYTISDT IARFQKMRGM QVINPMGWDA FGLPAENAAV ERNLHPQSWT 150
    QSNIKHMRKQ LDRLGLCFSW DREITTCLPD YYKWTQYLFI KLYEAGLAYQ 200
    KEALVNWDPV DQTVLANEQV DEHGCSWRSG AKVEQKYLRQ WFIKTTAYAK 250
    AMQDALADLP EWYGIKGMQA HWIGDCVGCH LDFTLKVHGQ ATGEKLTAYT 300
    ATPEAIYGTS HVAISPSHRL LHGHSSLKEA LRMALVPGKD CLTPVMAVNM 350
    LTQQEVPVVI LAKADLEGSL DSKIGIPSTS SEDTILAQTL GLAYSEVIET 400
    LPDGTERLSS SAEFTGMTRQ DAFLALTQKA RGKRVGGDVT SDKLKDWLIS 450
    RQRYWGTPIP IVHCPVCGPT PVPLEDLPVT LPNIASFTGK GGPPLAMASE 500
    WVNCSCPRCK GAAKRETDTM DTFVDSAWYY FRYTDPHNPH SPFNTAVADY 550
    WMPVDLYIGG KEHAVMHLFY ARFFSHFCHD QKMVKHREPF HKLLAQGLIK 600
    GQTFRLPSGQ YLQREEVDLT GSVPVHAKTK EKLEVTWEKM SKSKHNGVDP 650
    EEVVEQYGID TIRLYILFAA PPEKDILWDV KTDALPGVLR WQQRLWTLTT 700
    RFIEARASGK SPQPQLLSNK EKAEARKLWE YKNSVISQVT THFTEDFSLN 750
    SAISQLMGLS NALSQASQSV ILHSPEFEDA LCALMVMAAP LAPHVTSEIW 800
    AGLALVPRKL CAHYTWDASV LLQAWPAVDP EFLQQPEVVQ MAVLINNKAC 850
    GKIPVPQQVA RDQDKVHEFV LQSELGVRLL QGRSIKKSFL SPRTALINFL 900
    VQD 903
    Length:903
    Mass (Da):101,976
    Last modified:November 1, 1997 - v2
    Checksum:iD9AC143125124F58
    GO

    Sequence cautioni

    The sequence BAA04877.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti522 – 5221T → N in PRLTS4; reduced activity. 1 Publication
    VAR_070094
    Natural varianti629 – 6291T → M in PRLTS4; found in a compound heterozygote also carrying a null mutation; the mutant is functional in a yeast complementaion assay but might be insufficient as a heterozygote with a fully non-functional allele. 1 Publication
    VAR_070095
    Natural varianti727 – 7271K → N.
    Corresponds to variant rs36054230 [ dbSNP | Ensembl ].
    VAR_052638
    Natural varianti831 – 8311E → D.
    Corresponds to variant rs9827689 [ dbSNP | Ensembl ].
    VAR_052639

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D21851 mRNA. Translation: BAA04877.2. Different initiation.
    BC025989 mRNA. Translation: AAH25989.1.
    CCDSiCCDS2728.1.
    RefSeqiNP_056155.1. NM_015340.3.
    XP_005265063.1. XM_005265006.1.
    UniGeneiHs.526975.

    Genome annotation databases

    EnsembliENST00000265537; ENSP00000265537; ENSG00000011376.
    ENST00000415258; ENSP00000408576; ENSG00000011376.
    GeneIDi23395.
    KEGGihsa:23395.
    UCSCiuc003cop.1. human.

    Polymorphism databases

    DMDMi2501029.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D21851 mRNA. Translation: BAA04877.2 . Different initiation.
    BC025989 mRNA. Translation: AAH25989.1 .
    CCDSi CCDS2728.1.
    RefSeqi NP_056155.1. NM_015340.3.
    XP_005265063.1. XM_005265006.1.
    UniGenei Hs.526975.

    3D structure databases

    ProteinModelPortali Q15031.
    SMRi Q15031. Positions 53-901.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116968. 6 interactions.
    STRINGi 9606.ENSP00000265537.

    Chemistry

    DrugBanki DB00149. L-Leucine.

    PTM databases

    PhosphoSitei Q15031.

    Polymorphism databases

    DMDMi 2501029.

    Proteomic databases

    MaxQBi Q15031.
    PaxDbi Q15031.
    PeptideAtlasi Q15031.
    PRIDEi Q15031.

    Protocols and materials databases

    DNASUi 23395.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265537 ; ENSP00000265537 ; ENSG00000011376 .
    ENST00000415258 ; ENSP00000408576 ; ENSG00000011376 .
    GeneIDi 23395.
    KEGGi hsa:23395.
    UCSCi uc003cop.1. human.

    Organism-specific databases

    CTDi 23395.
    GeneCardsi GC03P045405.
    HGNCi HGNC:17095. LARS2.
    HPAi HPA035951.
    HPA045450.
    MIMi 604544. gene.
    615300. phenotype.
    neXtProti NX_Q15031.
    Orphaneti 2855. Perrault syndrome.
    PharmGKBi PA134982982.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0495.
    HOGENOMi HOG000200747.
    HOVERGENi HBG017877.
    InParanoidi Q15031.
    KOi K01869.
    OMAi HELEVYT.
    OrthoDBi EOG754HNN.
    PhylomeDBi Q15031.
    TreeFami TF105662.

    Enzyme and pathway databases

    BRENDAi 6.1.1.4. 2681.
    Reactomei REACT_15302. Mitochondrial tRNA aminoacylation.
    SABIO-RK Q15031.

    Miscellaneous databases

    GeneWikii LARS2.
    GenomeRNAii 23395.
    NextBioi 45533.
    PROi Q15031.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q15031.
    Bgeei Q15031.
    CleanExi HS_LARS2.
    Genevestigatori Q15031.

    Family and domain databases

    Gene3Di 1.10.730.10. 1 hit.
    3.40.50.620. 3 hits.
    3.90.740.10. 1 hit.
    InterProi IPR001412. aa-tRNA-synth_I_CS.
    IPR002300. aa-tRNA-synth_Ia.
    IPR002302. Leu-tRNA-ligase.
    IPR014729. Rossmann-like_a/b/a_fold.
    IPR009080. tRNAsynth_1a_anticodon-bd.
    IPR013155. V/L/I-tRNA-synth_anticodon-bd.
    IPR009008. Val/Leu/Ile-tRNA-synth_edit.
    [Graphical view ]
    PANTHERi PTHR11946:SF7. PTHR11946:SF7. 1 hit.
    Pfami PF08264. Anticodon_1. 1 hit.
    PF00133. tRNA-synt_1. 3 hits.
    [Graphical view ]
    PRINTSi PR00985. TRNASYNTHLEU.
    SUPFAMi SSF47323. SSF47323. 1 hit.
    SSF50677. SSF50677. 1 hit.
    TIGRFAMsi TIGR00396. leuS_bact. 1 hit.
    PROSITEi PS00178. AA_TRNA_LIGASE_I. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1."
      Nomura N., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S., Nagase T., Seki N., Ishikawa K., Tabata S.
      DNA Res. 1:27-35(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Bone marrow.
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Testis.
    3. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-236, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    4. "Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes."
      Li R., Guan M.X.
      Mol. Cell. Biol. 30:2147-2154(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. "Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome."
      Pierce S.B., Gersak K., Michaelson-Cohen R., Walsh T., Lee M.K., Malach D., Klevit R.E., King M.C., Levy-Lahad E.
      Am. J. Hum. Genet. 92:614-620(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PRLTS4 ASN-522 AND MET-629, CHARACTERIZATION OF VARIANTS PRLTS4 ASN-522 AND MET-629.

    Entry informationi

    Entry nameiSYLM_HUMAN
    AccessioniPrimary (citable) accession number: Q15031
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1997
    Last modified: October 1, 2014
    This is version 131 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Aminoacyl-tRNA synthetases
      List of aminoacyl-tRNA synthetase entries
    2. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3